Variant report

Variant	rs73125972
Chromosome Location	chr5:79447630-79447631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79445201..79447693-chr5:79550497..79553384,2	K562	blood:

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3763033	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763034	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859084	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125978	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125979	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709992	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79432400-79449000	Weak transcription	Fetal Brain Female	brain
2	chr5:79433600-79476600	Weak transcription	Small Intestine	intestine
3	chr5:79435800-79453600	Strong transcription	Fetal Intestine Small	intestine
4	chr5:79436600-79448200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:79437000-79448200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:79437000-79448200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:79437200-79448000	Strong transcription	Dnd41	blood
8	chr5:79437400-79448000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr5:79437600-79448200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr5:79437600-79449600	Weak transcription	Right Atrium	heart
11	chr5:79437600-79449600	Weak transcription	NHLF	lung
12	chr5:79437600-79456200	Weak transcription	HSMM	muscle
13	chr5:79437600-79464000	Weak transcription	Spleen	Spleen
14	chr5:79437800-79454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:79437800-79471400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:79438000-79455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:79438400-79448800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr5:79438400-79449600	Strong transcription	Placenta	Placenta
19	chr5:79438600-79448200	Strong transcription	Fetal Intestine Large	intestine
20	chr5:79438600-79482600	Weak transcription	Psoas Muscle	Psoas
21	chr5:79439000-79448000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:79439000-79449400	Weak transcription	HMEC	breast
23	chr5:79439200-79455000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:79439200-79456200	Strong transcription	Fetal Stomach	stomach
25	chr5:79439800-79455000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:79439800-79458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:79440200-79468200	Weak transcription	NHDF-Ad	bronchial
28	chr5:79440400-79448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:79440800-79449600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:79440800-79449600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:79441000-79449000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:79441400-79456400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:79441600-79450000	Genic enhancers	Fetal Thymus	thymus
34	chr5:79441800-79448200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr5:79441800-79448200	Strong transcription	Esophagus	oesophagus
36	chr5:79441800-79450800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:79442000-79448000	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr5:79442000-79448600	Genic enhancers	Primary T cells from cord blood	blood
39	chr5:79442000-79450600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:79442000-79453200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:79442000-79487600	Weak transcription	NH-A	brain
42	chr5:79442600-79449600	Weak transcription	Fetal Brain Male	brain
43	chr5:79442800-79447800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:79442800-79448600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:79443000-79448000	Strong transcription	HSMMtube	muscle
46	chr5:79443000-79450000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:79443200-79448200	Strong transcription	Aorta	Aorta
48	chr5:79443200-79448400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:79443600-79449400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:79443600-79451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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